Mitochondrial dna depletion syndrome 18

Preferred Label : Mitochondrial dna depletion syndrome 18;

Symbol : MTDPS18;

CISMeF acronym : MTDPS18;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21 gene (SLC25A21, 607571.0001);

Laboratory abnormalities : Increased urinary excretion of quinolinic acid; Increased urinary excretion of 2-oxoadipate; Lactic aciduria; Increased urinary excretion of glutaric acid; Increased urinary excretion of pipecolic acid; Increased urinary excretion of 3-hydroxyisovaleric acid;

Prefixed ID : #618811;

Details

Origin ID

618811;

UMLS CUI

C5394140;

Genes related to phenotype
- Solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Axonal degeneration [HPO term]
- Clonus [HPO term]
- Distal amyotrophy [HPO term]
- Distal muscle weakness [HPO term]
- Failure to thrive [HPO term]
- Falls [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Hand muscle atrophy [HPO term]
- Lacticaciduria [HPO term]
- Microcytic anemia [HPO term]
- Proximal muscle weakness [HPO term]
- Reduced forced vital capacity [HPO term]
- Scoliosis [HPO term]
- Tongue fasciculations [HPO term]
- Weakness of facial musculature [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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